Acute erythroid leukemia is enriched in NUP98 fusions: A report from the Children's Oncology Group

Karen M. Chisholm, Amy E. Heerema-McKenney, John K. Choi, Jenny Smith, Rhonda E. Ries, Betsy A. Hirsch, Susana C. Raimondi, Todd A. Alonzo, Yi Cheng Wang, Richard Aplenc, Lillian Sung, Alan S. Gamis, Soheil Meshinchi, Samir B. Kahwash

Research output: Contribution to journalArticlepeer-review

13 Scopus citations


Acute erythroid leukemia (AEL) is a rare subtype of acute myeloid leukemia (AML) primarily affecting older adults and was previously classified into erythroid/myeloid and pure erythroid subtypes. In this pediatric AEL study, we evaluated morphologic, immunophenotypic, cytogenetic, molecular, and clinical data of 24 (1.2%) cases from all cases undergoing central pathology review in Children's Oncology Group trials AAML0531 and AAML1031. Of 24 cases, 5 had a pure erythroid phenotype, and 19 had an erythroid/myeloid phenotype. NUP98 fusions were highly enriched in patients with AEL, occurring in 7 of 22 cases for which molecular data were available (31.8% vs 6.7% in other AML subtypes). Of 5 cases of pure erythroid leukemias (PELs), 3 had NUP98 fusions, and 4 had complex karyotypes. Erythroid/myeloid leukemias were reclassified by using the 2017 World Health Organization hematopathology classification as: myelodysplastic syndrome (MDS) with excess blasts-1 (n 5 3), MDS with excess blasts-2 (n 5 7), AML (nonerythroid, n 5 5), and unknown MDS/AML (n 5 4); the 5 cases of nonerythroid AML included 1 with an NUP98-NSD1 fusion, 2 with myelodysplasia-related changes, and 1 with a complex karyotype. Three cases of MDS with excess blasts-2 also had NUP98 rearrangements. WT1 mutations were present in 5 of 14 cases, all erythroid/myeloid leukemia. Outcomes assessment revealed statistically poorer overall survival (5-year, 20% 6 36% vs 66% 6 23%; P 5.004) and event-free survival (5-year, 20% 6 36% vs 46% 6 23%; P 5.019) for those with PEL than those with erythroid/myeloid leukemia. Our study supports that AEL is a morphologically and genetically heterogeneous entity that is enriched in NUP98 fusions, with the pure erythroid subtype associated with particularly adverse outcomes.

Original languageEnglish (US)
Pages (from-to)6000-6008
Number of pages9
JournalBlood Advances
Issue number23
StatePublished - Dec 8 2020

Bibliographical note

Publisher Copyright:
© 2020 by The American Society of Hematology


Dive into the research topics of 'Acute erythroid leukemia is enriched in NUP98 fusions: A report from the Children's Oncology Group'. Together they form a unique fingerprint.

Cite this